Pediatric Tumefactive Multiple Sclerosis: Diagnostic & Treatment Challenges

Background: Tumefactive multiple sclerosis or Marburg variant is a severe, acute, demyelinating disease that continues to be a diagnostic  and treatment challenge.

Objectives: We describe a case of a 15 year old female who presented with acute onset of headache. The patient was evaluated and found to have a large right frontal enhancing lesion with significant edema which was felt to be a primary brain tumor, this prompted biopsy for diagnosis. The patient rapidly deteriorated clinically, became hemiplegic, and required resection to prevent herniation.  Biopsy revealed findings of inflammatory demyelination. Because tumefactive MS is such a severe and rapidly progressive condition with dire consequences combination therapy was initiated to prevent further neurologic deterioration and need for decompressive craniotomy. Intravenous (IV) methylprednisolone and plasmapheresis resulted in rapid improvement and an excellent outcome.  

Methods: The case was reviewed with a multi-disciplinary team and outcomes were followed over a 6 month period. A literature search was conducted to review similar cases.

Results: This case demonstrates both diagnostic and treatment dilemmas of a rapidly expanding intracranial lesion. Despite recent technological advances, demyelinating disease is mistaken for malignancy. Because of the paucity of fulminant tumefactive cases the MRI characteristics are not well defined.  Despite imaging advancements discrimination between demyelinating, infectious, and neoplastic disease can still be challenging. Pathologic analysis of brain tissues remains the gold standard in diagnosis and should not be delayed. The treatment of fulminant tumefactive multiple sclerosis with steroids, plasma exchange or mitoxantrone have been described in several case reports.  High-dose steroids alone are often unsuccessful, possibly because of the intensity of the inflammatory response.

Conclusions: Demyelinating lesions should be considered in the differential of a rapidly expanding intracranial masses even in pediatric patients. Delay of diagnosis and institution of treatment can lead to dire consequences. Steroids alone may be insufficient for treatment of fulminant tumefactive multiple sclerosis and the institution of combination therapy with plasmapheresis should be considered.